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<!--
|
||
UID=1842257
|
||
ConceptID=C5679813
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Niemann-Pick disease type C, juvenile neurologic onset</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842257</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5679813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Niemann-Pick disease type C, classic form</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016309" target="_blank">MONDO:0016309</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=216981">ORPHA216981</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0028064[DISCUI]&test_type=Clinical" ref="ncbi_uid=10348">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=10348">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10348" ref="ncbi_uid=10348">V</a></span></span><span class="TLline"><a href="/medgen/10348" ref="tree=GTR&ncbi_uid=10348&link_uid=10348" title="View MedGen record for 'Sphingomyelin/cholesterol lipidosis'">Sphingomyelin/cholesterol lipidosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5243927[DISCUI]&test_type=Clinical" ref="ncbi_uid=1800807">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C5243927[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1800807">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=1800807">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1800807" ref="ncbi_uid=1800807">V</a></span></span><span class="TLline"><a href="/medgen/1800807" ref="tree=GTR&ncbi_uid=1800807&link_uid=1800807" title="View MedGen record for 'Acid sphingomyelinase deficiency'">Acid sphingomyelinase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842316" ref="tree=GTR&ncbi_uid=1842316&link_uid=1842316" title="View MedGen record for 'Chronic neurovisceral acid sphingomyelinase deficiency'">Chronic neurovisceral acid sphingomyelinase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82781" target="_blank" href="/omim/607616">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/82781" ref="tree=GTR&ncbi_uid=82781&link_uid=82781" title="View MedGen record for 'Niemann-Pick disease type E'">Niemann-Pick disease type E</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78650" target="_blank" href="/omim/257200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78650" ref="ncbi_uid=78650">V</a></span></span><span class="TLline"><a href="/medgen/78650" ref="tree=GTR&ncbi_uid=78650&link_uid=78650" title="View MedGen record for 'Niemann-Pick disease, type A'">Niemann-Pick disease, type A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268243[DISCUI]&test_type=Clinical" ref="ncbi_uid=78651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78651" target="_blank" href="/omim/607608">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78651">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78651" ref="ncbi_uid=78651">V</a></span></span><span class="TLline"><a href="/medgen/78651" ref="tree=GTR&ncbi_uid=78651&link_uid=78651" title="View MedGen record for 'Niemann-Pick disease, type B'">Niemann-Pick disease, type B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220756[DISCUI]&test_type=Clinical" ref="ncbi_uid=67399">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0220756[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=67399">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67399" target="_blank" href="/omim/257220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=67399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=67399" ref="ncbi_uid=67399">V</a></span></span><span class="TLline"><a href="/medgen/67399" ref="tree=GTR&ncbi_uid=67399&link_uid=67399" title="View MedGen record for 'Niemann-Pick disease, type C'">Niemann-Pick disease, type C</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1826101" ref="tree=GTR&ncbi_uid=1826101&link_uid=1826101" title="View MedGen record for 'Niemann-Pick disease type C, adult neurologic onset'">Niemann-Pick disease type C, adult neurologic onset</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Niemann-Pick disease type C, juvenile neurologic onset</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843353" ref="tree=GTR&ncbi_uid=1843353&link_uid=1843353" title="View MedGen record for 'Niemann-Pick disease type C, late infantile neurologic onset'">Niemann-Pick disease type C, late infantile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842400" ref="tree=GTR&ncbi_uid=1842400&link_uid=1842400" title="View MedGen record for 'Niemann-Pick disease type C, severe early infantile neurologic onset'">Niemann-Pick disease type C, severe early infantile neurologic onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842349" ref="tree=GTR&ncbi_uid=1842349&link_uid=1842349" title="View MedGen record for 'Niemann-Pick disease type C, severe perinatal form'">Niemann-Pick disease type C, severe perinatal form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3179455[DISCUI]&test_type=Clinical" ref="ncbi_uid=465922">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=465922" target="_blank" href="/omim/257220">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=465922">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=465922" ref="ncbi_uid=465922">V</a></span></span><span class="TLline"><a href="/medgen/465922" ref="tree=GTR&ncbi_uid=465922&link_uid=465922" title="View MedGen record for 'Niemann-Pick disease, type C1'">Niemann-Pick disease, type C1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843366[DISCUI]&test_type=Clinical" ref="ncbi_uid=335942">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335942" target="_blank" href="/omim/601015">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1296/" ref="ncbi_uid=335942">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335942" ref="ncbi_uid=335942">V</a></span></span><span class="TLline"><a href="/medgen/335942" ref="tree=GTR&ncbi_uid=335942&link_uid=335942" title="View MedGen record for 'Niemann-Pick disease, type C2'">Niemann-Pick disease, type C2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1825994" ref="tree=MeSH" title="MedGen record for Cerebral lipidosis with dementia">Cerebral lipidosis with dementia</a></span><ul><li><span class="TLline"><a href="/medgen/67399" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type C">Niemann-Pick disease, type C</a></span><ul><li><span class="matched_ds">Niemann-Pick disease type C, juvenile neurologic onset</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33892845">Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry-Kravis E</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Apr;37:100879.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.spen.2021.100879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33892845" target="_blank">33892845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22572546">Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC,
|
||
Hendriksz CJ,
|
||
Walterfang M,
|
||
Sedel F,
|
||
Vanier MT,
|
||
Wijburg F;
|
||
NP-C Guidelines Working Group</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Jul;106(3):330-44.
|
||
Epub 2012 May 8
|
||
doi: 10.1016/j.ymgme.2012.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22572546" target="_blank">22572546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21235443">New agents and approaches to treatment in Niemann-Pick type C disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Poyato MS,
|
||
Pineda M</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Biotechnol</span>
|
||
2011 Jun;12(6):897-901.
|
||
doi: 10.2174/138920111795542697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21235443" target="_blank">21235443</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(niemann-pick%20disease%20type%20c%2C%20juvenile%20neurologic%20onset)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39697013">Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoldas Celik M,
|
||
Yazici H,
|
||
Erdem F,
|
||
Yuksel Yanbolu A,
|
||
Canda E,
|
||
Sezer E,
|
||
Kalkan Ucar S,
|
||
Onay H,
|
||
Ozkinay F,
|
||
Yildirim Sozmen E,
|
||
Coker M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2024 Jan-Dec;66(1):e15832.
|
||
doi: 10.1111/ped.15832.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39697013" target="_blank">39697013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35164809">Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bolton SC,
|
||
Soran V,
|
||
Marfa MP,
|
||
Imrie J,
|
||
Gissen P,
|
||
Jahnova H,
|
||
Sharma R,
|
||
Jones S,
|
||
Santra S,
|
||
Crushell E,
|
||
Stampfer M,
|
||
Coll MJ,
|
||
Dawson C,
|
||
Mathieson T,
|
||
Green J,
|
||
Dardis A,
|
||
Bembi B,
|
||
Patterson MC,
|
||
Vanier MT,
|
||
Geberhiwot T</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Feb 14;17(1):51.
|
||
doi: 10.1186/s13023-022-02200-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35164809" target="_blank">35164809</a><a href="/pmc/articles/PMC8842861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23973268">Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ginocchio VM,
|
||
D'Amico A,
|
||
Bertini E,
|
||
Ceravolo F,
|
||
Dardis A,
|
||
Verrigni D,
|
||
Bembi B,
|
||
Dionisi-Vici C,
|
||
Deodato F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2013 Nov;110(3):329-35.
|
||
Epub 2013 Aug 7
|
||
doi: 10.1016/j.ymgme.2013.07.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23973268" target="_blank">23973268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23324478">Disease and patient characteristics in NP-C patients: findings from an international disease registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC,
|
||
Mengel E,
|
||
Wijburg FA,
|
||
Muller A,
|
||
Schwierin B,
|
||
Drevon H,
|
||
Vanier MT,
|
||
Pineda M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2013 Jan 16;8:12.
|
||
doi: 10.1186/1750-1172-8-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23324478" target="_blank">23324478</a><a href="/pmc/articles/PMC3558399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22572546">Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC,
|
||
Hendriksz CJ,
|
||
Walterfang M,
|
||
Sedel F,
|
||
Vanier MT,
|
||
Wijburg F;
|
||
NP-C Guidelines Working Group</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Jul;106(3):330-44.
|
||
Epub 2012 May 8
|
||
doi: 10.1016/j.ymgme.2012.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22572546" target="_blank">22572546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%20type%20C%2C%20juvenile%20neurologic%20onset%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33892845">Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry-Kravis E</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Apr;37:100879.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.spen.2021.100879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33892845" target="_blank">33892845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26998855">Niemann-Pick type C: focus on the adolescent/adult onset form.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Lazzaro V,
|
||
Marano M,
|
||
Florio L,
|
||
De Santis S</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2016 Nov;126(11):963-71.
|
||
Epub 2016 Mar 29
|
||
doi: 10.3109/00207454.2016.1161623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26998855" target="_blank">26998855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25434476">Cataplexy and sleep disorders in Niemann-Pick type C disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevsimalova S,
|
||
Malinova V</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2015 Jan;15(1):522.
|
||
doi: 10.1007/s11910-014-0522-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25434476" target="_blank">25434476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135395">Niemann-Pick disease type C symptomatology: an expert-based clinical description.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mengel E,
|
||
Klünemann HH,
|
||
Lourenço CM,
|
||
Hendriksz CJ,
|
||
Sedel F,
|
||
Walterfang M,
|
||
Kolb SA</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2013 Oct 17;8:166.
|
||
doi: 10.1186/1750-1172-8-166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24135395" target="_blank">24135395</a><a href="/pmc/articles/PMC3853996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%20type%20C%2C%20juvenile%20neurologic%20onset%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39697013">Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoldas Celik M,
|
||
Yazici H,
|
||
Erdem F,
|
||
Yuksel Yanbolu A,
|
||
Canda E,
|
||
Sezer E,
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Kalkan Ucar S,
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Onay H,
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Ozkinay F,
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Yildirim Sozmen E,
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<div class="nl"><a target="_blank" href="/pubmed/36243834">Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gutić M,
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Milosavljević MN,
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Janković SM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36243834" target="_blank">36243834</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35164809">Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bolton SC,
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Soran V,
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Marfa MP,
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Imrie J,
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Gissen P,
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Jahnova H,
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Sharma R,
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Jones S,
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Santra S,
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Crushell E,
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Stampfer M,
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Coll MJ,
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Dawson C,
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Mathieson T,
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Green J,
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Dardis A,
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Bembi B,
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Patterson MC,
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Vanier MT,
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Geberhiwot T</span><br />
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|
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doi: 10.1186/s13023-022-02200-4.
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<span class="bold">PMID: </span><a href="/pubmed/35164809" target="_blank">35164809</a><a href="/pmc/articles/PMC8842861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/23973268">Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ginocchio VM,
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D'Amico A,
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Bertini E,
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Ceravolo F,
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Dardis A,
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Verrigni D,
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Bembi B,
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Dionisi-Vici C,
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Deodato F</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2013 Nov;110(3):329-35.
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Epub 2013 Aug 7
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doi: 10.1016/j.ymgme.2013.07.019.
|
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<span class="bold">PMID: </span><a href="/pubmed/23973268" target="_blank">23973268</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2010 Jun 3;5:16.
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doi: 10.1186/1750-1172-5-16.
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<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%20type%20C%2C%20juvenile%20neurologic%20onset%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36243834">Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutić M,
|
||
Milosavljević MN,
|
||
Janković SM</span><br />
|
||
<span class="medgenPMjournal">Int J Clin Pharm</span>
|
||
2022 Dec;44(6):1442-1453.
|
||
Epub 2022 Oct 15
|
||
doi: 10.1007/s11096-022-01491-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36243834" target="_blank">36243834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26998855">Niemann-Pick type C: focus on the adolescent/adult onset form.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Lazzaro V,
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Marano M,
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Florio L,
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De Santis S</span><br />
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<span class="medgenPMjournal">Int J Neurosci</span>
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2016 Nov;126(11):963-71.
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Epub 2016 Mar 29
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doi: 10.3109/00207454.2016.1161623.
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<span class="bold">PMID: </span><a href="/pubmed/26998855" target="_blank">26998855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24135395">Niemann-Pick disease type C symptomatology: an expert-based clinical description.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mengel E,
|
||
Klünemann HH,
|
||
Lourenço CM,
|
||
Hendriksz CJ,
|
||
Sedel F,
|
||
Walterfang M,
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Kolb SA</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2013 Oct 17;8:166.
|
||
doi: 10.1186/1750-1172-8-166.
|
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<span class="bold">PMID: </span><a href="/pubmed/24135395" target="_blank">24135395</a><a href="/pmc/articles/PMC3853996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22572546">Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC,
|
||
Hendriksz CJ,
|
||
Walterfang M,
|
||
Sedel F,
|
||
Vanier MT,
|
||
Wijburg F;
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NP-C Guidelines Working Group</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
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||
2012 Jul;106(3):330-44.
|
||
Epub 2012 May 8
|
||
doi: 10.1016/j.ymgme.2012.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22572546" target="_blank">22572546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%20type%20C%2C%20juvenile%20neurologic%20onset%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35164809">Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bolton SC,
|
||
Soran V,
|
||
Marfa MP,
|
||
Imrie J,
|
||
Gissen P,
|
||
Jahnova H,
|
||
Sharma R,
|
||
Jones S,
|
||
Santra S,
|
||
Crushell E,
|
||
Stampfer M,
|
||
Coll MJ,
|
||
Dawson C,
|
||
Mathieson T,
|
||
Green J,
|
||
Dardis A,
|
||
Bembi B,
|
||
Patterson MC,
|
||
Vanier MT,
|
||
Geberhiwot T</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Feb 14;17(1):51.
|
||
doi: 10.1186/s13023-022-02200-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35164809" target="_blank">35164809</a><a href="/pmc/articles/PMC8842861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879555">Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolevzon A,
|
||
Delaby E,
|
||
Berry-Kravis E,
|
||
Buxbaum JD,
|
||
Betancur C</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2019;10:50.
|
||
Epub 2019 Dec 24
|
||
doi: 10.1186/s13229-019-0291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879555" target="_blank">31879555</a><a href="/pmc/articles/PMC6930682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25434476">Cataplexy and sleep disorders in Niemann-Pick type C disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevsimalova S,
|
||
Malinova V</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
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2015 Jan;15(1):522.
|
||
doi: 10.1007/s11910-014-0522-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25434476" target="_blank">25434476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20525256">Niemann-Pick disease type C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Jun 3;5:16.
|
||
doi: 10.1186/1750-1172-5-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20525256" target="_blank">20525256</a><a href="/pmc/articles/PMC2902432" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10227680">Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanier MT</span><br />
|
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<span class="medgenPMjournal">Neurochem Res</span>
|
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1999 Apr;24(4):481-9.
|
||
doi: 10.1023/a:1022575511354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10227680" target="_blank">10227680</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%20type%20C%2C%20juvenile%20neurologic%20onset%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27)</a></div></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879555">Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolevzon A,
|
||
Delaby E,
|
||
Berry-Kravis E,
|
||
Buxbaum JD,
|
||
Betancur C</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2019;10:50.
|
||
Epub 2019 Dec 24
|
||
doi: 10.1186/s13229-019-0291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879555" target="_blank">31879555</a><a href="/pmc/articles/PMC6930682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Niemann-Pick%20disease%20type%20C%2C%20juvenile%20neurologic%20onset%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Niemann-Pick%20disease%20type%20C,%20juvenile%20neurologic%20onset" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/20507/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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